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Article

Genetics of familial hypercholesterolemia.

Current atherosclerosis reports - 1 Apr 2015

Brautbar Ariel, Leary Emili, Rasmussen Kristen, Wilson Don P, Steiner Robert D, Virani Salim

Abstract excerpt

Familial hypercholesterolemia (FH) is a genetic disorder characterized by elevated low-density lipoprotein (LDL) cholesterol and premature cardiovascular disease, with a prevalence of approximately 1 in 200-500 for heterozygotes in North America and Europe. Monogenic FH is largely attributed to mutations in the LDLR, APOB, and PCSK9 genes. Differential diagnosis is critical to distinguish FH from conditions with...

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Source

Identifiers

PMID: 25712136
DOI: 10.1007/s11883-015-0491-z

Genes

APOB
LDLR
PCSK9

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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